Eyes from 19 human embryos with proved chromosomal abnormalities were examined histopathologically. The chromosomal aberrations included monosomy X, B trisomy, C trisomy (10 trisomy), D trisomy, G trisomy, and triploidy. Some ocular abnormalities were identified which represented primarily a retardation of development, while other findings represented dysgenesis of ocular structures. The spectrum of ocular abnormalities included cyclopia, microphthalmia, cataract, staphyloma of the optic nerve, retinal dysplasia, and subluxation of the lens. Abnormalities of ocular development were thus seen in structures derived from surface ectoderm, neural ectoderm, and mesoderm in association with an abnormal karyotype.
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